Cystic fibrosis (CF) is an autosomal recessive disease due to a deleterious mutation in a chloride channel gene (CFTR = CF transmembrane conductance regulator), located on chromosome 7. From a ...

CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic fibrosis have a gene mutation that causes problems with the protein. Some ...

Cystic fibrosis (CF) is a common genetic disorders that has been well studied. Researchers have identified CF-causing mutations in a gene called CFTR, which encodes for an ion channel. The genetic ...

Recognizing that before these recommendations there was wide disparity in the number and identity of CFTR mutations tested by individual laboratories, 7 with no single laboratory offering this precise ...

Please provide your email address to receive an email when new articles are posted on . Few patients with cystic fibrosis have a copy of the 3849+10kb C-to-T splicing mutation. Research is planned to ...

A study published in Nature Communications revealed a new antisense oligonucleotide (ASO) therapy applicable to the W1282X mutation of the cystic fibrosis transmembrane conductance regulator gene ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Protein folding diseases, from Alzheimer's to Gaucher's, may one day be treated by a unique class of protein corrector molecules that are already helping manage cystic fibrosis. Protein misfolding is ...

An optimized version of prime editing technology raises the possibility of a one-time treatment for cystic fibrosis. In their 2019 paper, Liu’s team used prime editing to alter the gene mutations ...

Eloxx Pharmaceuticals ELOX announced topline results from the Phase 2 clinical trial of ELX-02 in combination with ivacaftor in Class 1 cystic fibrosis (CF) patients with at least one nonsense ...